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Flashcards in Biochem Deck (116):
1

GAGs are required in purine synthesis

Glycine

Aspartate

Glutamine

2

Leflunomide inhibits

Dihydroorotate dehydrogenase in Pyrimidine De novo synthesis

 

3

Dihydroorotate dehydrogenase converts

Carbamoyl phosphate to Orotic acid

4

Mycophenolate inhibits

IMP dehydrogenase in purine synthesis

5

Ribavirin inhibits

IMP dehydrogenase in purine synthesis

6

Hydroxyurea inhibits

Ribonucleotide reductase in Pyrimidine synthesis

7

Ribonucleotide reductase converts

UDP to dUDP

8

HGPRT converts

Hypoxanthine to IMP and Guanine to GMP in Purine Salvage

9

Lesch-Nyhan syndrome is

X-linked recessive absence of HGPRT

10

Treatment of Lesch-Nyhan

Allopurinol or Febuxostat

11

Fluoroquinolones inhibit

DNA gyrase (prokaryotic topoisomerase 2)

12

Nucleotide excision repair

Specific endonucleases release the oligonucleotide containing damaged bases

13

What is defective in Xeroderma pigmentosum

AR nucleotide exicision repair

14

What is defective in HNPCC

Mismatch repair

15

What is mutated in ataxia telangiectasia

Nonhomologous end joining

16

RER is the site of

Synthesis of secretory proteins and of N-linked oligosaccharide addition to many proteins

17

SER is site of

Steroid synthesis and detoxification of drugs and poisons

18

Golgi is

Distribution center for proteins and lipids from the ER to vesicles and plamsa membrane

19

What occures in Golgi

  1. Modifies N-oligosacchardes on aspargine
  2. Adds O-oligosacchardes on serine and threonine
  3. Adds mannose-6-phosphate to proteins

20

I-cell disease is

Defect in phosphotransferase leading to failure of Golgi to phosphorylate mannose residues

21

I-cell disease clinical

  1. Coarse face
  2. Clouded corneas
  3. Restricted joint movement
  4. High plasma levels of lysosomal enzymes

22

COP1 move proteins from

Golgi to ER

Golgi to Golgi (retrograde)

23

COP2 moves proteins from

ER to Golgi

Golgi to Golgi (anterograde)

24

Microtubules Get Constructed Very Poorly are druges that act on Microtubules

  1. Mebendazole (anti-helminthic)
  2. Griseofluvin (anti-fungal)
  3. Colchicine (anti-gout)
  4. Vincristine/Vinblastin (anti-cancer)
  5. Paclitaxel (anti-cancer)

25

Collagen is 1/3

Glycine

26

Osteogenesis imperfecta is prolbems

forming triple helix of collagen in glycosylation in RER

27

Osteogeneisis imperfecta genetics

AD

28

Skin and joint symptoms of Ehlers-Danlos is due to mutation in

Collagen type 5

29

Menkes diseases is due to 

Impaired Cu absorption and transport

30

ELISA is used to detect

Antigen (direct)

Antibody (indirect)

31

Pleiotropy means

One gene contributes to multiple phenotypic effects such as PKU

32

Loss of heterozygosity is also known as

Two-hit hypothesis

33

Mosaicism is

Presence of genetically distinct cell lines in the same individual due to mitotic errors after fertilization

34

Example of Locus heterogeneity

Albinism, Marfan, Homocystine

35

Example of Allelic heterogeneity

β-thalassemia

36

Heterodisomy indicates

A meiosis 1 error leading to Uniparental disomy

37

Isodisomy indicates

Meiosis 2 error leading to uniparental disomy

38

FAP genetics

AD mutaiton in APC (chro 5)

39

Familial hypercholesterolemia genetics

AD defective or absent LDL receptor

40

Hereditary hemorrhagic telangiectasia also known as

Osler-Weber-Rendu syndrome

41

Hereditary hemorrhagic telangiectasia genetics

AD disorder of blood vessels

42

Hereditary spherocytosis genetics

AD spectrin or ankyrin defect

43

Huntington disease genetics

AD CAG repeat on chro 4

44

Marfan syndrome genetics

AD fibrillin-1 gene mutation

45

MEN genetics

AD mutation in Ret

46

Tuberous sclerosis genetics

AD neurocutaneous disorder

47

VHL disease genetics

AD VHL gene deletion on chro 3

48

CF genetics

AR defect in CFTR on Chro 7

49

AR diseases (12)

  1. Albinism
  2. ARPKD
  3. CF
  4. Glycogen storage diseases
  5. Hemochromatosis
  6. Kartagener
  7. Mucopolysaccharidoses
  8. PKU
  9. Sickle cell
  10. Sphingolipidoses
  11. Thalassemia
  12. Wilson

50

Be Wise, Fool's GOLD Heeds Silly HOpe are x-linked recessive disorders

  1. Bruton agammaglobulinemia
  2. Wiskott-Aldrich
  3. Fabry
  4. G6PD
  5. Ocular albinism
  6. Lesch-Nyhan
  7. Duchenne
  8. Hunter Syndrome
  9. Hemophilia A and B
  10. Ornithine transcarbamylase deficiency

51

Duchenne genetics

X-linked recessive frameshift mutation of dystrophin

52

Becker genetics

X-linked recessive point mutation of dystrophin gene

53

Myotonic dystrophy genetics

X-linked recessive CTG repeat in DMPK gene

54

Myotonic dystrophy clinical

  1. Myotonia
  2. Muscle wasting
  3. Frontal balding
  4. Cataracts
  5. Testicular atrophy
  6. Arrhythmia

55

Fragile X syndrome repeat

CGG

56

Friedreich ataxia repeat

GAA

57

Huntington repeat

CAG

58

Myotonic repeat

CTG

59

Williams syndrome due to

Congenital microdeletion of long arm of chro 7

60

Williams syndrome clinical

  1. Elfin face
  2. Intellecual disability
  3. Hypercalcemia
  4. Extreme friendliness with strangers
  5. CVS problems

61

B1 is

Thiamine

62

B2 is

Riboflavin

63

B3 is 

Niacin

64

B5 is

Pantothenic acid: CoA

65

B6 is

Pyridoxine

66

B7 is

Biotin

67

B9 is

Folate

68

B12 is

Cobalamin

69

Thiamine (B1) is required for

ATP

α-ketoglutarate

Transketolase

Pyruvate dehydrogenase

70

3 D's of B3

Diarrhea

Dementia

Dermatitis

71

Kwashiorkor MEAL

  • Malnutrition (low protein)
  • Edema
  • Anemia
  • Liver damage (fatty liver)
  • Skin lesions and hair loss

72

Action of Kinase

Uses ATP to add high-energy phosphate group

73

Action of Phosphorylase

Adds inorganic phosphate without using ATP

74

Action of Phosphatase

Removes phosphate group

75

Action of Dehydrogenase

Catalyzes oxidation-reduction reaction

76

Action of Hydroxylase

Adds -OH

77

Action of Carboxylase

Transfers CO2 with help of biotin

78

NADPH used in

  1. Anabolic processes
  2. Respiratory burst
  3. Cytochrome P-450 system
  4. Glutathione reductase

79

TLC for Nancy needed for what enzymes

Pyruvate dehydrogenase

α-ketoglutarate

80

What is seen in G6PD Deficiency

  1. Heinz bodies: Oxidized Hemoglobin
  2. Bite cells: phagocytic removal of heinz bodies

81

Essential fructosuria genetics

AR defect in Fructokinase

82

Fructose intolerance genetics

AR deficiency in aldolase B

83

Galactokinase deficiency genetics

AR deficiency of Glacotokinase

84

Classic galactosemia genetics

AR absence of glactose-1-phophate uridyltransferase

85

PriVaTe TIM HALL are essential AA

  1. Phenylalanine
  2. Valine
  3. Tryptophan
  4. Threonine
  5. Iisolucine
  6. Methionine
  7. Histidine
  8. Alanine
  9. Leucine
  10. Lysine

86

PKU is due to

Decrease Phenylalanine hydroxylase or Decrease Tetrahydrobiopterin cofactor

87

PKU clinical

  1. Mental retardation
  2. Growth retardation
  3. Seizures
  4. Fair skin
  5. Eczema
  6. Musty body odor

88

Alkaptonuria is

AR deficiency of homogentisate oxidase

89

Different types of Homocystinuria

  1. Cystathionine synthase deficiency
  2. B6 deficiency
  3. Homocysteine methyltransferase deficiency

90

Homocystinuria clinical

  1. Mental retardation
  2. Osteoporosis
  3. Tall stature
  4. Kyphosis
  5. Lens subluxation
  6. Thrombosis
  7. Atherosclerosis

91

Von Gierke disease is

AR deficiency in Glucose-6-phosphatase leading to Glycogen storage disease

92

Pompe disease is

AR deficiency in Lysosomal α-1,4-glucosidase leading to Glycogen storage disease that damages the heart

93

Cori disease is

AR deficiency in Debranching enzyme leading to Glycogen storage disease

94

McArdle disease is

AR deficiency in skeletal muscle glycogen phosphorylase

95

Fabry disease is

X-linked recessive deficiency in α-galactosidase A leading to lysosomal storage disease

96

What accumulates in Fabry disease

Ceramide trihexoside

97

Fabry clinical

Peripheral neuropathy of hands/feet

Angiokeratoma

CVS and renal

98

Gaugher is

AR deficiency in Glucocerebrosidase causing lysosomal storage disease

99

What accumulates in Gaucher

Glucocerebroside

100

Gaucher clinical

  1. Hepatosplenomegaly
  2. Pancytopenia
  3. Aseptic necrosis of femur
  4. Bone crisis

101

Niemann-Pick is

AR deficiency in Sphingomyelinase leading to Lysosomal storage disease

102

What accumulates in Niemann-Pick

Sphingomyelin

103

Niemann-Pick clinical

  1. Neurodegeneration
  2. Hepatosplenomegaly
  3. Cherry-red spot on macula
  4. Foam cells

104

Tay-Sachs is

AR deficiency of Hexosaminidase A leading to lysosomal storage disease

105

What accumulates in Tay-Sachs

GM2 ganglioside

106

Tay-Sach clinical

Same as Niemann-Pick without hepatosplenomegaly

107

Krabbe disease is

AR deficiency in Glactocerebrosidase leading to lysosomal storage disease

108

What accumulates in Krabbe

Galactocerebroside

Psychosine

109

Hurler syndrome is

AR deficiency in α-L-iduronidase leading to lysosomal storage disease

110

What is accumulated in Hurler

Heparan sulfate

Dermatan sulfate

111

What maintains blood glucose levels after 1-3 days of starvation

  1. Hepatic glycogenolysis
  2. Adipose release of FFA
  3. Muslce and liver shift fuel use from glucose to FFA

112

Type 1 Hyper-chylomicronemia is

AR lipoprotein lipase deficiency or altered apo-C2

113

What is increased in Type 1 Hyper-chylomicronemia

  1. Chylomicrons
  2. TG
  3. Cholesterol

114

Type 1 Hyper-Chylomicronemia clinical

  1. Pancreatitis
  2. Hepatosplenomegaly
  3. Eruptive/pruritic xanthomas

115

2a Familial Hyper-Cholesterolemia is

AD absent or defective LDL receptors

116

4 Hyper-Triglyceridemia is

AD hepatic overproduction of VLDL causing pancreatitis